Canonical Allele Identifier: CA997262727

Gene: BRSK1

Linked Data

• gnomAD v3: 19-55308312-C-CCTGTACCTGGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCT
• gnomAD v4: 19-55308312-C-CCTGTACCTGGCTCCAACTTCTTTTTCTTACATTTCTGGTCCTTCATGGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55308331_55308332insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT , CM000681.2:g.55308331_55308332insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	GRCh38
NC_000019.9:g.55819699_55819700insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT , CM000681.1:g.55819699_55819700insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	GRCh37
NC_000019.8:g.60511511_60511512insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309383.6:c.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT MANE Select	ENSP00000310649.1:n.2090-308_2090-307insCTTTTTCTTACATTTCTGGTC...
ENST00000309383.5:c.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	ENSP00000310649.1:n.2090-308_2090-307insCTTTTTCTTACATTTCTGGTC...
ENST00000326848.7:c.1175-308_1175-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	ENSP00000320853.7:n.1175-308_1175-307insCTTTTTCTTACATTTCTGGTC...
ENST00000590333.5:c.2138-308_2138-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	ENSP00000468190.1:n.2138-308_2138-307insCTTTTTCTTACATTTCTGGTC...
NM_032430.1:c.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	NP_115806.1:n.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCAT...
XM_005259327.2:c.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	XP_005259384.1:n.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTT...
XM_011527395.1:c.1847-308_1847-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	XP_011525697.1:n.1847-308_1847-307insCTTTTTCTTACATTTCTGGTCCTT...
XR_430213.2:n.2073-308_2073-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT
XM_005259327.3:c.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	XP_005259384.1:n.1820-308_1820-307insCTTTTTCTTACATTTCTGGTCCTT...
XM_011527395.2:c.1562-308_1562-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	XP_011525697.2:n.1562-308_1562-307insCTTTTTCTTACATTTCTGGTCCTT...
XM_024451739.1:c.1865-308_1865-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT	XP_024307507.1:n.1865-308_1865-307insCTTTTTCTTACATTTCTGGTCCTT...
XR_430213.4:n.2371-308_2371-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT
NM_032430.2:c.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCATGGCCTCTGTACCTGGCTCCAACTT MANE Select	NP_115806.1:n.2090-308_2090-307insCTTTTTCTTACATTTCTGGTCCTTCAT...